SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics
Alimohamed, Mohamed Z., Boven, Ludolf G., van Dijk, Krista K., Vos, Yvonne J., Hoedemaekers, Yvonne M., van der Zwaag, Paul A., Sijmons, Rolf H., Jongbloed, Jan D.H., Sikkema-Raddatz, Birgit, Westers, Helga
Published in Gene (30.01.2023)
Published in Gene (30.01.2023)
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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
Ghorbani, Fatemeh, Alimohamed, Mohamed Z, Vilacha, Juliana F, Van Dijk, Krista K, De Boer-Bergsma, Jelkje, Fokkens, Michiel R, Lemmink, Henny, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Groves, Matthew R, Verschuuren-Bemelmans, Corien C, Verbeek, Dineke S, Van Diemen, Cleo C, Westers, Helga
Published in Frontiers in genetics (25.03.2022)
Published in Frontiers in genetics (25.03.2022)
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CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
Johansson, Lennart F., van Dijk, Freerk, de Boer, Eddy N., van Dijk-Bos, Krista K., Jongbloed, Jan D.H., van der Hout, Annemieke H., Westers, Helga, Sinke, Richard J., Swertz, Morris A., Sijmons, Rolf H., Sikkema-Raddatz, Birgit
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
Alimohamed, Mohamed Z., Johansson, Lennart F., Posafalvi, Anna, Boven, Ludolf G., van Dijk, Krista K., Walters, Lisa, Vos, Yvonne J., Westers, Helga, Hoedemaekers, Yvonne M., Sinke, Richard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Jongbloed, Jan D.H., van der Zwaag, Paul A.
Published in International journal of cardiology (01.06.2021)
Published in International journal of cardiology (01.06.2021)
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K, Johansson, Lennart F, van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit
Published in BMC medical genomics (04.02.2016)
Published in BMC medical genomics (04.02.2016)
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In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe
Gostyńska, Katarzyna B, Bremer, Jeroen, van Dijk-Bos, Krista K, Sinke, Richard, Pasmooij, Anna Maria G, Jonkman, Marcel F
Published in Acta dermato-venereologica (01.01.2017)
Published in Acta dermato-venereologica (01.01.2017)
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